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Section edited by Lucia Altucci, James Davie, Eamonn Maher, Adele Murrell, Trygve O Tollefsbol and Bryan Turner
This section welcomes articles from any discipline of clinical epigenetics not covered by the other journal sections.

  1. Content type: Research

    The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can oc...

    Authors: F. M. Elli, L. deSanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli, M. Arosio, A. Linglart and G. Mantovani

    Citation: Clinical Epigenetics 2019 11:3

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  2. Content type: Research

    Psoriasis is a chronic inflammatory autoimmune skin disorder. Several studies suggested psoriasis to be a complex multifactorial disease, but the exact triggering factor is yet to be determined. Evidences sugg...

    Authors: Aditi Chandra, Swapan Senapati, Sudipta Roy, Gobinda Chatterjee and Raghunath Chatterjee

    Citation: Clinical Epigenetics 2018 10:108

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  3. Content type: Research

    Posttranslational modification of histone tails such as histone 3 lysine 27 acetylation (H3K27ac) is tightly coupled to epigenetic regulation of gene expression. To explore whether this is involved in placenta...

    Authors: N. D. Paauw, A. T. Lely, J. A. Joles, A. Franx, P. G. Nikkels, M. Mokry and B. B. van Rijn

    Citation: Clinical Epigenetics 2018 10:85

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  4. Content type: Research

    Many genome- and epigenome-wide association studies (GWAS and EWAS) and studies of promoter methylation of candidate genes for inflammatory bowel disease (IBD) have demonstrated significant associations betwee...

    Authors: Marija Klasić, Dora Markulin, Aleksandar Vojta, Ivana Samaržija, Ivan Biruš, Paula Dobrinić, Nicholas T. Ventham, Irena Trbojević-Akmačić, Mirna Šimurina, Jerko Štambuk, Genadij Razdorov, Nicholas A. Kennedy, Jack Satsangi, Ana M. Dias, Salome Pinho, Vito Annese…

    Citation: Clinical Epigenetics 2018 10:75

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  5. Content type: Methodology

    Mislabeled, contaminated or poorly performing samples can threaten power in methylation microarray analyses or even result in spurious associations. We describe a set of quality checks for the popular Illumina...

    Authors: Jonathan A. Heiss and Allan C. Just

    Citation: Clinical Epigenetics 2018 10:73

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  6. Content type: Letter to the Editor

    DNA methylation is a dynamic epigenetic mechanism. Researchers aiming to assess archived DNA samples are expressing concern about the effect of technical factors on methylation, as this may confound results. W...

    Authors: Kira Groen, Rodney A. Lea, Vicki E. Maltby, Rodney J. Scott and Jeannette Lechner-Scott

    Citation: Clinical Epigenetics 2018 10:22

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  7. Content type: Research

    Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Male...

    Authors: Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz and Bekim Sadikovic

    Citation: Clinical Epigenetics 2018 10:21

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  8. Content type: Review

    Our current view of DNA methylation processes is strongly moving: First, even if it was generally admitted that DNMT3A and DNMT3B are associated with de novo methylation and DNMT1 is associated with inheritanc...

    Authors: Eric Hervouet, Paul Peixoto, Régis Delage-Mourroux, Michaël Boyer-Guittaut and Pierre-François Cartron

    Citation: Clinical Epigenetics 2018 10:17

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  9. Content type: Research

    Lung function is an important predictor of morbidity and mortality, with accelerated lung function decline reported to have immense consequences for the world’s healthcare systems. The lung function decline ac...

    Authors: Anneli C. S. Bolund, Anna Starnawska, Martin R. Miller, Vivi Schlünssen, Vibeke Backer, Anders D. Børglum, Kaare Christensen, Qihua Tan, Lene Christiansen and Torben Sigsgaard

    Citation: Clinical Epigenetics 2017 9:132

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  10. Content type: Research

    MicroRNAs (miRNAs) in circulation have emerged as promising biomarkers. In this study, we aimed to identify a circulating miRNA signature for osteoarthritis (OA) patients and in combination with bioinformatics...

    Authors: E. Ntoumou, M. Tzetis, M. Braoudaki, G. Lambrou, M. Poulou, K. Malizos, N. Stefanou, L. Anastasopoulou and A. Tsezou

    Citation: Clinical Epigenetics 2017 9:127

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  11. Content type: Research

    Occult hepatitis B virus infection (OBI) is an important risk factor of liver cirrhosis and hepatocellular carcinoma. Type 1 interferon (IFN) signaling-related miRNAs were significantly associated with hepatit...

    Authors: Yiying Wang, Peifu Zhu, Jing Qiu, Jie Wang, Huijuan Zhu, Yinwei Zhu, Lige Zhang, Jie Zhu, Xingxiang Liu and Chen Dong

    Citation: Clinical Epigenetics 2017 9:101

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  12. Content type: Research

    Idiopathic pulmonary fibrosis (IPF) is a progressive, fatal lung disorder of unknown origin with a highly variable and unpredictable clinical course. Polymorphisms and environmentally induced epigenetic variat...

    Authors: J. Guiot, I. Struman, V. Chavez, M. Henket, M. Herzog, K. Scoubeau, N. Hardat, B. Bondue, JL. Corhay, C. Moermans and R. Louis

    Citation: Clinical Epigenetics 2017 9:84

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  13. Content type: Research

    Lysine-specific demethylase 1A (LSD1) is a key regulator of the androgen (AR) and estrogen receptors (ER), and LSD1 levels correlate with tumor aggressiveness. Here, we demonstrate that LSD1 regulates vitamin ...

    Authors: Sebastiano Battaglia, Ellen Karasik, Bryan Gillard, Jennifer Williams, Trisha Winchester, Michael T. Moser, Dominic J Smiraglia and Barbara A. Foster

    Citation: Clinical Epigenetics 2017 9:82

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  14. Content type: Research

    Accumulating evidence suggests that tobacco smoking affects the susceptibility to and severity of chronic periodontitis. Epigenetics may explain the role of smoking in the development and progress of periodont...

    Authors: Young-Dan Cho, Pil-Jong Kim, Hong-Gee Kim, Yang-Jo Seol, Yong-Moo Lee, Young Ku, In-Chul Rhyu and Hyun-Mo Ryoo

    Citation: Clinical Epigenetics 2017 9:81

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  15. Content type: Research

    Frozen-thawed embryo transfer (FET) is increasingly available for the improvement of the success rate of assisted reproductive technologies other than fresh embryo transfer (ET). There have been numerous findi...

    Authors: Hitoshi Hiura, Hiromitsu Hattori, Norio Kobayashi, Hiroaki Okae, Hatsune Chiba, Naoko Miyauchi, Akane Kitamura, Hiroyuki Kikuchi, Hiroaki Yoshida and Takahiro Arima

    Citation: Clinical Epigenetics 2017 9:79

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  16. Content type: Research

    Goblet cell metaplasia, a common feature of chronic obstructive pulmonary disease (COPD), is associated with mucus hypersecretion which contributes to the morbidity and mortality among patients. Transcription ...

    Authors: J. Song, I. H. Heijink, L. E. M. Kistemaker, M. Reinders-Luinge, W. Kooistra, J. A. Noordhoek, R. Gosens, C. A. Brandsma, W. Timens, P. S. Hiemstra, M. G. Rots and M. N. Hylkema

    Citation: Clinical Epigenetics 2017 9:42

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  17. Content type: Research

    Epigenetics changes have been shown to be affected by cigarette smoking. Cigarette smoke (CS)-mediated DNA methylation can potentially affect several cellular and pathophysiological processes, acute exacerbati...

    Authors: Isaac K. Sundar, Qiangzong Yin, Brian S. Baier, Li Yan, Witold Mazur, Dongmei Li, Martha Susiarjo and Irfan Rahman

    Citation: Clinical Epigenetics 2017 9:38

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  18. Content type: Short report

    DNA methylation is the most studied epigenetic modification due to its role in regulating gene expression, and its involvement in the pathogenesis of cancer and several diseases upon aberrations in methylation...

    Authors: Teresia Kling, Anna Wenger, Stephan Beck and Helena Carén

    Citation: Clinical Epigenetics 2017 9:33

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  19. Content type: Methodology

    Determining the role of DNA methylation in various biological processes is dependent on the accurate representation of often highly complex patterns. Accurate representation is dependent on unbiased PCR amplif...

    Authors: Ida L. M. Candiloro, Thomas Mikeska and Alexander Dobrovic

    Citation: Clinical Epigenetics 2017 9:31

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  20. Content type: Research

    Lung disease progression is variable among cystic fibrosis (CF) patients and depends on DNA mutations in the CFTR gene, polymorphic variations in disease modifier genes, and environmental exposure. The contributi...

    Authors: Milena Magalhães, Isabelle Rivals, Mireille Claustres, Jessica Varilh, Mélodie Thomasset, Anne Bergougnoux, Laurent Mely, Sylvie Leroy, Harriet Corvol, Loïc Guillot, Marlène Murris, Emmanuelle Beyne, Davide Caimmi, Isabelle Vachier, Raphaël Chiron and Albertina De Sario

    Citation: Clinical Epigenetics 2017 9:19

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  21. Content type: Short report

    A report of the 6th Epigenomics of Common Diseases Conference held at the Wellcome Genome Campus in Hinxton, Cambridge, UK, on 1–4 November 2016.

    Authors: Euan J. Rodger and Aniruddha Chatterjee

    Citation: Clinical Epigenetics 2017 9:5

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  22. Content type: Letter to the Editor

    The study of DNA methylation in development and disease has ‘exploded’ as a field in recent years, with three major classes of measurement now routine. These encompass (i) locus-specific, (ii) genome-scale/wid...

    Authors: Regan Vryer and Richard Saffery

    Citation: Clinical Epigenetics 2017 9:2

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  23. Content type: Research

    Environmentally influenced phenotypes, such as obesity and insulin resistance, can be transmitted over multiple generations. Epigenetic modifications, such as methylation of DNA cytosine-guanine (CpG) pairs, m...

    Authors: Shaza B. Zaghlool, Mashael Al-Shafai, Wadha A. Al Muftah, Pankaj Kumar, Christian Gieger, Melanie Waldenberger, Mario Falchi and Karsten Suhre

    Citation: Clinical Epigenetics 2016 8:124

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  24. Content type: Research

    We present the first sequencing data using the combinatorial probe-anchor synthesis (cPAS)-based BGISEQ-500 sequencer. Applying cPAS, we investigated the repertoire of human small non-coding RNAs and compared it ...

    Authors: Tobias Fehlmann, Stefanie Reinheimer, Chunyu Geng, Xiaoshan Su, Snezana Drmanac, Andrei Alexeev, Chunyan Zhang, Christina Backes, Nicole Ludwig, Martin Hart, Dan An, Zhenzhen Zhu, Chongjun Xu, Ao Chen, Ming Ni, Jian Liu…

    Citation: Clinical Epigenetics 2016 8:123

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  25. Content type: Research

    Molecular biomarkers that might help to distinguish between more aggressive and clinically insignificant prostate cancers (PCa) are still urgently needed. Aberrant DNA methylation as a common molecular alterat...

    Authors: Emily Eva Holmes, Diane Goltz, Verena Sailer, Maria Jung, Sebastian Meller, Barbara Uhl, Jörn Dietrich, Magda Röhler, Jörg Ellinger, Glen Kristiansen and Dimo Dietrich

    Citation: Clinical Epigenetics 2016 8:104

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  26. Content type: Review

    SETD8/SET8/Pr-SET7/KMT5A is the only known lysine methyltransferase (KMT) that monomethylates lysine 20 of histone H4 (H4K20) in vivo. Lysine residues of non-histone proteins including proliferating cell nucle...

    Authors: Ciro Milite, Alessandra Feoli, Monica Viviano, Donatella Rescigno, Agostino Cianciulli, Amodio Luca Balzano, Antonello Mai, Sabrina Castellano and Gianluca Sbardella

    Citation: Clinical Epigenetics 2016 8:102

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  27. Content type: Methodology

    Bisulfite (BS) conversion-based and methylation-sensitive restriction enzyme (MSRE)-based PCR methods have been the most commonly used techniques for locus-specific DNA methylation analysis. However, both meth...

    Authors: Ram Vinay Pandey, Walter Pulverer, Rainer Kallmeyer, Gabriel Beikircher, Stephan Pabinger, Albert Kriegner and Andreas Weinhäusel

    Citation: Clinical Epigenetics 2016 8:101

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  28. Content type: Research

    Colorectal cancer (CRC) appear to arise from precursor lesions in a well-characterized adenoma-carcinoma sequence. Significant efforts have been invested to develop biomarkers that identify early adenocarcinom...

    Authors: Alexander Semaan, Anne van Ellen, Sebastian Meller, Dominik Bergheim, Vittorio Branchi, Philipp Lingohr, Diane Goltz, Jörg C. Kalff, Glen Kristiansen, Hanno Matthaei, Dimitrios Pantelis and Dimo Dietrich

    Citation: Clinical Epigenetics 2016 8:100

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  29. Content type: Short report

    DNA methylation is an essential epigenetic mark, controlled by DNA methyltransferase (DNMT) proteins, which regulates chromatin structure and gene expression throughout the genome. In this study, we describe a...

    Authors: Kristin D. Kernohan, Laila Cigana Schenkel, Lijia Huang, Amanda Smith, Guillaume Pare, Peter Ainsworth, Kym M. Boycott, Jodi Warman-Chardon and Bekim Sadikovic

    Citation: Clinical Epigenetics 2016 8:91

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  30. Content type: Research

    In utero and early-life experienced environmental exposures are suggested to play an important role in many multifactorial diseases potentially mediated through lasting effects on the epigenome. As the epigeno...

    Authors: Nicklas H. Staunstrup, Anna Starnawska, Mette Nyegaard, Lene Christiansen, Anders L. Nielsen, Anders Børglum and Ole Mors

    Citation: Clinical Epigenetics 2016 8:81

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  31. Content type: Review

    Vascular malformations are developmental congenital abnormalities of the vascular system which may involve any segment of the vascular tree such as capillaries, veins, arteries, or lymphatics. Arteriovenous ma...

    Authors: Jaya Mary Thomas, Sumi Surendran, Mathew Abraham, Arumugam Rajavelu and Chandrasekharan C. Kartha

    Citation: Clinical Epigenetics 2016 8:78

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    The Correction to this article has been published in Clinical Epigenetics 2018 10:124

  32. Content type: Research

    Chronic hepatitis B infection is characterized by hepatic immune and inflammatory response with considerable variation in the rates of progression to cirrhosis. Genetic variants and environmental cues influenc...

    Authors: Müjdat Zeybel, Sezgin Vatansever, Timothy Hardy, Ayşegül Akder Sarı, Fulya Cakalağaoğlu, Arzu Avcı, Gemma Louise Zeybel, Serçin Karahüseyinoğlu, Matthew Bashton, John C. Mathers, Belkıs Ünsal and Jelena Mann

    Citation: Clinical Epigenetics 2016 8:48

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  33. Content type: Research

    Genomic imprinting evolved in a common ancestor to marsupials and eutherian mammals and ensured the transcription of developmentally important genes from defined parental alleles. The regulation of imprinted g...

    Authors: Florian Bohne, David Langer, Ursula Martiné, Claudia S. Eider, Regina Cencic, Matthias Begemann, Miriam Elbracht, Luzie Bülow, Thomas Eggermann, Ulrich Zechner, Jerry Pelletier, Bernhard Ulrich Zabel, Thorsten Enklaar and Dirk Prawitt

    Citation: Clinical Epigenetics 2016 8:47

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  34. Content type: Review

    The need for research investigating DNA methylation (DNAm) in clinical studies has increased, leading to the evolution of new analytic methods to improve accuracy and reproducibility of the interpretation of r...

    Authors: Michelle L. Wright, Mikhail G. Dozmorov, Aaron R. Wolen, Colleen Jackson-Cook, Angela R. Starkweather, Debra E. Lyon and Timothy P. York

    Citation: Clinical Epigenetics 2016 8:45

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  35. Content type: Research

    Insulin-like growth factors 1 and 2 (IGF1 and IGF2) and their binding proteins (IGFBPs) are expressed in the placenta and known to regulate fetal growth. DNA methylation is an epigenetic mechanism which involv...

    Authors: Aamod R. Nawathe, Mark Christian, Sung Hye Kim, Mark Johnson, Makrina D. Savvidou and Vasso Terzidou

    Citation: Clinical Epigenetics 2016 8:11

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